Canonical Allele Identifier: CA361739279

Gene: TCOF1

Linked Data

• MyVariant Identifiers: chr5:g.149772986G>C (hg19) ; chr5:g.150393423G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150393423G>C , CM000667.2:g.150393423G>C	GRCh38
NC_000005.9:g.149772986G>C , CM000667.1:g.149772986G>C	GRCh37
NC_000005.8:g.149753179G>C	NCBI36
NG_011341.1:g.40785G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427724.7:c.3538G>C	ENSP00000390717.3:p.Ala1180Pro
ENST00000643257.2:c.3655G>C MANE Select	ENSP00000493815.1:p.Ala1219Pro
ENST00000650162.1:c.3310G>C	ENSP00000497075.1:p.Ala1104Pro
ENST00000674413.1:c.3054G>C
ENST00000323668.11:c.3421G>C	ENSP00000325223.6:p.Ala1141Pro
ENST00000377797.7:c.3652G>C	ENSP00000367028.4:p.Ala1218Pro
ENST00000427724.6:c.3538G>C	ENSP00000390717.2:p.Ala1180Pro
ENST00000439160.6:c.3541G>C	ENSP00000406888.2:p.Ala1181Pro
ENST00000445265.6:c.3424G>C	ENSP00000409944.2:p.Ala1142Pro
ENST00000504761.6:c.3652G>C	ENSP00000421655.2:p.Ala1218Pro
ENST00000513346.5:c.3652G>C	ENSP00000427484.1:p.Ala1218Pro
ENST00000514442.5:n.3702G>C
ENST00000515516.1:c.343-3320G>C	ENSP00000426471.1:n.343-3320G>C
NM_000356.3:c.3421G>C	NP_000347.2:p.Ala1141Pro
NM_001135243.1:c.3652G>C	NP_001128715.1:p.Ala1218Pro
NM_001135244.1:c.3541G>C	NP_001128716.1:p.Ala1181Pro
NM_001135245.1:c.3424G>C	NP_001128717.1:p.Ala1142Pro
NM_001195141.1:c.3538G>C	NP_001182070.1:p.Ala1180Pro
XM_005268502.2:c.3766G>C	XP_005268559.1:p.Ala1256Pro
XM_005268503.2:c.3763G>C	XP_005268560.1:p.Ala1255Pro
XM_005268504.2:c.3763G>C	XP_005268561.1:p.Ala1255Pro
XM_005268505.2:c.3655G>C	XP_005268562.1:p.Ala1219Pro
XM_005268506.2:c.3652G>C	XP_005268563.1:p.Ala1218Pro
XM_005268507.2:c.3535G>C	XP_005268564.1:p.Ala1179Pro
XM_011537678.1:c.3586G>C	XP_011535980.1:p.Ala1196Pro
XR_427778.1:n.3770G>C
XR_427780.1:n.3659G>C
XM_005268502.4:c.3766G>C	XP_005268559.1:p.Ala1256Pro
XM_005268503.4:c.3763G>C	XP_005268560.1:p.Ala1255Pro
XM_005268504.4:c.3763G>C	XP_005268561.1:p.Ala1255Pro
XM_005268505.4:c.3655G>C	XP_005268562.1:p.Ala1219Pro
XM_005268506.4:c.3652G>C	XP_005268563.1:p.Ala1218Pro
XM_005268507.4:c.3535G>C	XP_005268564.1:p.Ala1179Pro
XM_011537678.3:c.3586G>C	XP_011535980.1:p.Ala1196Pro
XM_017009792.2:c.3649G>C	XP_016865281.1:p.Ala1217Pro
XM_017009793.2:c.3475G>C	XP_016865282.1:p.Ala1159Pro
XM_017009794.2:c.3361G>C	XP_016865283.1:p.Ala1121Pro
XR_427778.3:n.3772G>C
XR_427780.3:n.3661G>C
NM_000356.4:c.3421G>C	NP_000347.2:p.Ala1141Pro
NM_001135244.2:c.3541G>C	NP_001128716.1:p.Ala1181Pro
NM_001135245.2:c.3424G>C	NP_001128717.1:p.Ala1142Pro
NM_001195141.2:c.3538G>C	NP_001182070.1:p.Ala1180Pro
NM_001371623.1:c.3655G>C MANE Select	NP_001358552.1:p.Ala1219Pro
NM_001135243.2:c.3652G>C	NP_001128715.1:p.Ala1218Pro